A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604591



Internal ID6644841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31886066..31888339hg38UCSC Ensembl
Innerchr5:31886090..31888316hg38UCSC Ensembl
Outerchr5:31886043..31888363hg38UCSC Ensembl
chr5:31886172..31888445hg19UCSC Ensembl
Innerchr5:31886196..31888422hg19UCSC Ensembl
Outerchr5:31886149..31888469hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg382274
hg192274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11854956, essv11854955
SamplesHG01432, HG01464
Known GenesPDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604591
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer